FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Crouzon syndrome

Synonyms
Definitions

A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.

ID

http://purl.obolibrary.org/obo/DOID_2339

definition

A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Crouzon syndrome

prefixIRI

DOID:2339

prefLabel

Crouzon syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_2340

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2339 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_2339 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2339 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_2339 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_2339 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_2339 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2339 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_2339 DDSS LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 MONDO LOOM
http://www.orpha.net/ORDO/Orphanet_207 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 DOVES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2339 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0010273 OCHV LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Crouzon_Syndrome PEDTERM LOOM
http://identifiers.org/omim/123500 REXO LOOM
http://identifiers.org/omim/123500 GEXO LOOM
http://identifiers.org/omim/123500 RETO LOOM
http://www.orpha.net/ORDO/Orphanet_207 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_2339 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2339 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2339 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2339 MIDO LOOM
http://purl.bioontology.org/ontology/RCD/PG04. RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/28861008 SNOMEDCT LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17907 DERMLEX LOOM
http://purl.bioontology.org/ontology/OMIM/123500 OMIM LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00C05 SNMI LOOM
http://purl.obolibrary.org/obo/OMIM_123500 CCO LOOM
http://purl.obolibrary.org/obo/HIO_0000193 HIO LOOM
http://purl.org/skeletome/bonedysplasia#Crouzon_syndrome BDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 EFO LOOM
http://purl.obolibrary.org/obo/DOID_2339 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2339 DOID LOOM
rgo:08707 GAMUTS LOOM